I have been intrigued by genetics since junior high school. I love working in a field where I can combine my interest in science with the ability to provide improved medical care to patients.
During my more than 30-year career in genetics, I’ve seen amazing changes. As we better understand how genes cause certain disorders, we can develop specific treatments and improve the health and future for many children.
As a clinical geneticist, I specialize in caring for children with many different genetic disorders. My main area of subspecialty is neurofibromatosis. I also have a special interest in Rubinstein-Taybi syndrome, tuberous sclerosis and many other genetic disorders. I strongly feel that each patient should be treated as an individual with his or her own unique needs.
I am proud to work for one of the largest neurofibromatosis clinics in the country. Our program is part of the Children's Tumor Foundation Clinic Network and the Neurofibromatosis Clinical Trials Consortium. I serve on the Children's Tumor Foundation Clinical Care Advisory Board, a position I’ve held for the past 10 years.
My research focuses on clinical trials for patients with neurofibromatosis. We want to find better treatments for bone disease in neurofibromatosis, benign neurofibromatosis tumors and associated learning difficulties.
When I’m not at work, I enjoy travel, gardening and spending time with my grandchildren.
BS: Biology, University of Cincinnati, Cincinnati, OH, 1977.
MD: University of Michigan, Ann Arbor, MI, 1982.
Residency: Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1982-1985.
Fellowship: Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1985-1988.
Certification: American Board of Pediatrics, 1987; Clinical Genetics, American Board of Medical Genetics, 1987.
Genetic disorders; congenital anomalies; neurofibromatosis; tuberous sclerosis; bone disease in neurofibromatosis; Ehlers-Danlos syndrome
Genetics, Neurofibromatosis, Tuberous Sclerosis, Brain Tumor, Rasopathy
History of bone complications of neurofibromatosis type 1 (NF1); learning and behavioral problems in NF1; and drug trials for plexiform neurofibromas and other NF-related tumors.
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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine. 2021; 23:1506-1513.
Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1. Journal of Attention Disorders. 2021; 25:1177-1186.
NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas. Journal of Clinical Oncology. 2021; 39:797-806.
Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis. International Journal of Molecular Sciences. 2021; 22.
Are Some Randomized Clinical Trials Impossible?. Journal of Pediatric Orthopaedics. 2021; 41:e90-e93.
The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities. Oncologist. 2020; 25:e1109-e1116.
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1. Genetics in Medicine. 2020; 22:889-897.
Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1. Annals of Clinical and Translational Neurology. 2019; 6:2555-2565.
Health Supervision for Children With Neurofibromatosis Type 1. Pediatrics. 2019; 143.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genetics in Medicine. 2019; 21:867-876.
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